ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2586G>A (p.Ala862=)

gnomAD frequency: 0.00001  dbSNP: rs112677962
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184515 SCV001350497 likely benign Cardiomyopathy 2019-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001475173 SCV001679362 likely benign Hypertrophic cardiomyopathy 2025-01-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001184515 SCV002042277 likely benign Cardiomyopathy 2019-09-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184515 SCV004825066 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.